When genetic load does not correlate with phenotypic spectrum: Lessons from the GnRH receptor (GNRHR)

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 9, 2012, Pages

  Gianetti, Elena ^a   Hall, Janet E ^a   Au, Margaret G ^a   Kaiser, Ursula B ^b   Quinton, Richard ^d,e   Stewart, Jane A ^f   Metzger, Daniel L ^g   Pitteloud, Nelly ^h   Mericq, Veronica ⁱ   Merino, Paulina M ⁱ   Levitsky, Lynne L ^a   Izatt, Louise ^j   Lang Muritano, Mariarosaria ^k   Fujimoto, Victor Y ^l   Dluhy, Robert G ^c   Chase, Matthew L ^a   Crowley, William F ^a   Plummer, Lacey ^a   Seminara, Stephanie B ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b Division of Endocrinology   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^f INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^g BC CHILDREN S HOSPITAL   (Canada)

^h LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

ⁱ UNIVERSITY OF CHILE   (Chile)

^j GUY S HOSPITAL   (United Kingdom)

^k UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^l UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GONADORELIN RECEPTOR;

ADULT; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LOAD; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; GONADORELIN RECEPTOR GENE; GROWTH HORMONE DEFICIENCY; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84866184274     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-1264     Document Type: Article

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